SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1246017758 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1246020574 HIBCH Health Risk Conflicting classifications of pathogenicity 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS1246023978 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1246034197 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1246050542 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS1246053601 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1246063885 FLG Health Risk Pathogenic —
RS1246080692 BFSP1 Health Risk Pathogenic Cataract 33, Cataract 33
RS12460842 P2RY11 Health Risk association Cataplexy and narcolepsy, Cataplexy and narcolepsy
RS1246088013 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1246091092 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1246094460 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1246102682 COL4A3 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS1246114252 HTRA1 Health Risk Conflicting classifications of pathogenicity Macular degeneration, Macular degeneration
RS1246120938 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1246123283 COL2A1 Health Risk Pathogenic —
RS1246149309 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS1246160310 DOK7 Health Risk Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1246168127 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS1246174371 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1246211702 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS1246230813 PGAP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Intellectual disability
RS1246231808 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1246249632 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1246253918 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS1246272841 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, MYH7-related skeletal myopathy
RS1246299084 USB1 Health Risk Likely pathogenic —
RS1246315416 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Retinitis pigmentosa 37
RS1246377488 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS1246380412 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS1246397238 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS1246399599 CYP27B1 Health Risk Pathogenic —
RS1246416070 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1246417094 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS1246420113 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1246456207 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1246464603 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1246472342 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1246486951 CDSN Health Risk Likely pathogenic Peeling skin syndrome 1, Peeling skin syndrome 1
RS1246539243 KMT2C Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1246546027 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1246563058 LOXHD1 Health Risk Likely pathogenic —
RS1246567657 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1246570435 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1246598364 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1246607749 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1246610728 SYNE1 Health Risk Pathogenic/Likely pathogenic —
RS1246614990 ADGRG4 Health Risk Conflicting classifications of pathogenicity —
RS1246628003 VPS41 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 29
RS1246662762 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1246681473 TNC Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 56, Autosomal dominant nonsyndromic hearing loss 56
RS1246693314 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1246699436 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS1246747991 IQCB1 Health Risk Conflicting classifications of pathogenicity See cases, Nephronophthisis
RS1246761302 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS1246765240 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS1246768740 CYBA Health Risk Likely pathogenic Granulomatous disease, chronic
RS1246771678 COL2A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 1, COL2A1-related disorder
RS1246772999 MITF Health Risk Likely pathogenic Tietz syndrome, Waardenburg syndrome type 2A
RS1246774295 CYP21A2 Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia, ADRENAL HYPERPLASIA
RS1246790145 TOPORS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1246844424 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Inborn genetic diseases
RS1246861211 ACTA1 Health Risk Pathogenic/Likely pathogenic Non-immune hydrops fetalis, Actin accumulation myopathy
RS1246873642 RELN Health Risk Likely pathogenic Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1246889300 SMAD6 Health Risk Conflicting classifications of pathogenicity Aneurysm-osteoarthritis syndrome, Aortic valve disease 2
RS1246910938 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1246923304 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1246931412 OTX2 Health Risk Likely pathogenic Anophthalmia-microphthalmia syndrome, Syndromic microphthalmia type 5
RS1246937494 TSEN34 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2C, Pontocerebellar hypoplasia type 2C
RS1246940345 LIG4 Health Risk Pathogenic/Likely pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1246940477 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Congenital Muscular Dystrophy
RS1246940718 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1246969208 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1246984265 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1246987923 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1246994520 TONSL Health Risk Pathogenic —
RS1247015446 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS1247022294 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1247027543 DLL4 Health Risk Pathogenic Adams-Oliver syndrome 6, Adams-Oliver syndrome 6
RS1247032180 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1247055716 PNKP Health Risk Likely pathogenic Microcephaly, seizures
RS1247059195 EOGT Health Risk Pathogenic Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
RS1247059842 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1247068015 CNTNAP2 Health Risk Pathogenic/Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1247079002 HOGA1 Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1247084547 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1247088024 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1247089981 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS1247102370 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1247117898 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1247127142 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS1247143185 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS1247147548 COL10A1 Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
RS1247177623 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, TGFBR2-related disorder
RS1247179970 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS1247180998 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1247198934 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1247205097 CHST14 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, musculocontractural type
RS1247223599 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS1247269491 PROC Health Risk Likely pathogenic Reduced protein C activity, Thrombophilia due to protein C deficiency
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